According to the National Institute of Health, a genome-wide association study is defined as any study of genetic variation across the entire human genome that is designed to identify genetic associations with observable traits (such as blood pressure or weight), or the presence or absence of a disease or condition. Whole genome information, when combined with clinical and other phenotype data, offers the potential for increased understanding of basic biological processes affecting human health, improvement in the prediction of disease and patient care, and ultimately the realization of the promise of personalized medicine. In addition, rapid advances in understanding the patterns of human genetic variation and maturing high-throughput, cost-effective methods for genotyping are providing powerful research tools for identifying genetic variants that contribute to health and disease. This burgeoning science merges the principles of statistics and genetics studies to make sense of the vast amounts of information available with the mapping of genomes. In order to make the most of the information available, statistical tools must be tailored and translated for the analytical issues which are original to large-scale association studies. This book will provide researchers with advanced biological knowledge who are entering the field of genome-wide association studies with the groundwork to apply statistical analysis tools appropriately and effectively. With the use of consistent examples throughout the work, chapters will provide readers with best practice for getting started (design), analyzing, and interpreting data according to their research interests. Frequently used tests will be highlighted and a critical analysis of the advantages and disadvantage complimented by case studies for each will provide readers with the information they need to make the right choice for their research.

"This book discusses the emergence of a new class of genes with a specific anticancer activity. These genes, recently defined as "Anticancer Genes", are reviewed in individual chapters on their mode of action, the specific cell death signals they induce, and the status of attempts to translate them into clinical application. Anticancer Genes provides an overview of this nascent field, its genesis, current state, and prospect. It discusses how Anticancer Genes might lead to the identification of a repertoire of signaling pathways directed against cellular alterations that are specific for tumor cells."--Publisher's website.

An Overview of Methods Used in Neurogenomics and Their Applications -- Gene Expression-Based Approaches to Understanding Huntington{u2019}s Disease and New Tools for the Interpretation of Expression Datasets -- Location Analysis and Expression Profiling Using Next Generation Sequencing for Research in Neurodegenerative Diseases -- RNA Sequencing from Laser Capture Microdissected Brain Tissue to Study Normal Aging and Alzheimer{u2019}s Disease -- Targeted Re-Sequencing in Psychiatric Disorders -- Role of Neurogenomics in the Development of Personalized Neurology.

This book, besides reviewing basic and clinical aspects of Behėt's disease, covers the latest findings, including genetic studies and treatment with biologics for the disease. Although the cause of Behėt's disease is still unknown, it is well known that genetic factors, such as HLA-B51, are involved in its development. Recently, novel susceptibility loci including IL10, IL23R-IL12RB2, and endoplasmic reticulum aminopeptidase 1 have been identified, providing new insights into the pathogenesis of the disease. In addition to basic research, the beneficial efficacy of anti-TNF-alpha monoclonal antibodies has also been suggested for not only uveitis associated with the disease but also other subtypes of the disease such as entero-, vasculo-, and neuro- Behėt's disease. Behėt's Disease: From Genetics to Therapies provides essential information both for basic researchers working in the fields of immunology, inflammation, and genetics, and for clinical physicians who are interested in Behėt's disease, such as ophthalmologists, rheumatologists, dermatologists, gastroenterologists, neurologists, and vascular surgeons.

Benign & Pathological Chromosomal Imbalances systematically clarifies the disease implications of cytogenetically visible copy number variants (CG-CNV) using cytogenetic assessment of heterochromatic or euchromatic DNA variants. While variants of several megabasepair can be present in the human genome without clinical consequence, visually distinguishing these benign areas from disease implications does not always occur to practitioners accustomed to costly molecular profiling methods such as FISH, aCGH, and NGS. As technology-driven approaches like FISH and aCGH have yet to achieve the promise of universal coverage or cost efficacy to sample investigated, deep chromosome analysis and molecular cytogenetics remains relevant for technology translation, study design, and therapeutic assessment. Knowledge of the rare but recurrent rearrangements unfamiliar to practitioners saves time and money for molecular cytogeneticists and genetics counselors, helping to distinguish benign from harmful CG-CNV. It also supports them in deciding which molecular cytogenetics tools to deploy. Shows how to define the inheritance and formation of cytogenetically visible copy number variations using cytogenetic and molecular approaches for genetic diagnostics, patient counseling, and treatment plan development. Uniquely classifies all known variants by chromosomal origin, saving time and money for researchers in reviewing benign and pathologic variants before costly molecular methods are used to investigate. Side-by-side comparison of copy number variants with their recently identified submicroscopic form, aiding technology assessment using aCGH and other techniques.

Between the Lines of Genetic Code lays out methodologies and tools for the measurement and evaluation of gene-gene and gene-environment studies and gives perspective on the future of this discipline. The book begins by defining terms for interaction studies, describing methodologies, and critically assessing the viability of current study designs and the possibilities for integrating designs. It then provides recent applications data with case studies in rheumatoid arthritis, multiple sclerosis, myositis and other complex human diseases. Last, it examines current studies and directions for future applications in patient care. Recent multivariate studies show that gene-gene and gene-environment interactions can explain significant variances in inheritance that have previously been undetectable in univariate analysis. These links among genes and between genes and their environments during the development of diseases may serve as important hints for understanding pathogenic mechanisms and for developing new tools for prognosis, diagnosis, and treatment of various diseases. Systematically integrates methods of defining and detecting gene interactions to provide an overview of the field. Critically analyzes current methods and tools to aid researchers in integrating gene interaction studies Includes examples of current biomedical applications and presents current research expected to shape clinical research in the near future.

by Barry R. Furrow, Professor of Law and Director, Health Law Program, Drexel University; Thomas L. Greaney, Chester A. Myers Professor of Law and Co-Director, Center for Health Law Studies, Saint Louis University; Sandra H. Johnson, Professor Emerita of Law and Health Care Ethics, Center for Health Law Studies, Saint Louis University School of Law; Timothy Stolzfus Jost, Robert L. Willett Family Professor of Law, Washington and Lee University; Robert L. Schwartz, Senor Visiting Professor, University of California Hastings College of the Law, Weihofen Professor of Law Emeritus, University of New Mexico.

An introduction to the study of ethics and ethical theories -- Reproduction and birth -- Legal issues in human genetics -- Organ transplantation and the determination of death -- Life and death decisions -- Medically assisted dying -- -- Regulation of research involving human subjects -- Population health and public health.

1. Genetic variability provides the biochemical basis for our individuality, including differences in our susceptibility to many common diseases -- 2. Making the most of family history information, single gene disorders and Mendelian patterns of inheritance, and when to refer to a genetic specialist -- 3. Types of genetic tests and issues associated with the interpretation of their results -- 4. Toward the safer and more effective use of prescription drugs: pharmacogenetics -- 5. Taking a personalized medicine approach to breast and colon cancer -- 6. Personalized risk assessments and treatments for complex cardiovascular disease -- 7. Other multifactorial disorders for which genetic/genomic testing is providing insights -- Epilogue and list of resources.

The ability of stem/progenitor cells to exit the cell cycle is essential for proper embryonic development, but the mechanisms governing cell cycle exit are still not fully understood. Correct regulation of G1 is critical for ensuring proper organismal development, tissue homeostasis, and tumor suppression. The Retinoblastoma (Rb) gene family is composed of three genes, Rb, p107, and p130, which are collectively thought to serve as essential regulators of the G1 phase of the cell cycle in most proliferating cell types. The Rb family has also been implicated in promoting the gene expression of several differentiation programs in different cell lineages. However, due to the overlapping and compensatory functions among the Rb family members, a complete understanding of how the Rb family controls the cell cycle and differentiation programs within a cell remains unclear. Furthermore, it has not yet been tested whether the Rb family members are the only mediators of these cellular processes, or if there are alternative mechanisms for cell cycle exit and differentiation in mammalian stem and progenitor cells. Here we tested the requirement for the Rb protein and its family members p107 and p130 in G1 arrest and differentiation in mammalian cells. We employed several strategies to conditionally remove the Rb family genes in entire embryos and in specific neural lineages, as well as multiple differentiation systems in vitro. We found that Rb family triple knock-out (TKO) mouse embryos survive until days 9-11 of gestation, with similar patterning and organogenesis as seen in wild type embryos. Strikingly, a number of TKO cells, including in the neural lineage, are able to exit the cell cycle in G1 and fully differentiate in vivo and in culture. This ability of TKO cells to arrest in G1 is associated with the repression of key cell cycle target genes for E2F and Myc transcription factors. Thus, G1 arrest can be achieved independently of Rb family members, illustrating the robustness of cell cycle regulatory networks during embryogenesis, and identifying a novel program that regulates cell cycle exit in G1 in mammalian cells.

Early embryonic cell types such as the zygote, blastomeres of the preimplantation embryo, and embryonic stem (ES) cells have powerful chromatin remodeling activities that facilitate DNA-dependent processes such as transcription and DNA repair. Chd1l encodes a chromatin remodeling factor and is more highly expressed in the inner cell mass (ICM) compared to the whole blastocyst. Chd1l expression is developmentally regulated during a time course of preimplantation development and is present in ES cells. Intriguing expression patterns suggested Chd1l could be a novel regulator of DNA-dependent processes in early developmental cell types. This dissertation describes research undertaken to address the role of Chd1l in chromatin remodeling in the preimplantation embryo and in ES cells. Reducing Chd1l protein to nearly undetectable levels in ES cells reveals that Chd1l is dispensable for ES cell viability, proliferation, and pluripotent morphology. Global gene expression patterns are unaltered by Chd1l knock-down. Chd1l is also dispensable for expression patterns of lineage markers associated with the formation of the primary germ layers in differentiating embryoid bodies. Zygote-stage embryos injected with Chd1l-MO arrest prior to the morula stage. Knock-down by the MO was confirmed at the transcript levels by microfluidic qPCR, and the arrest phenotype was partially rescued upon co-injection of Chd1l mRNA and Chd1l-MO. ES cells are known to have stringent and unique pathways to repair DNA damage to prevent mutation and genomic instability from arising in the organism. Reduction of Chd1l in ES cells confers resistance to induced DNA damage, a finding that contrasts with another study that used a differentiated cell line. Apoptosis induced by over-expression of Chd1l occurs specifically in ES cells and not in their differentiated counterparts. This switch in the effect of Chd1l over-expression during differentiation suggests that the function of Chd1l is very different in ES cells than in differentiated somatic cells. DNA repair through non-homologous end joining (NHEJ) is particularly critical in the zygote to repair the paternal genome. Differentiated somatic cells, but not ES cells also rely heavily on NHEJ. Biochemical evidence supports the involvement of Chd1l in NHEJ. Deficient DNA repair could underlie the Chd1l arrest phenotype. Therefore, Chd1l functions minimally, or not at all, in regulating gene expression and contributes to the DNA damage response in a developmental stage-specific and/or cell type-specific manner.

"The successful utilization of biomarkers in clinical development and, indeed, realization of personalized medicine require a close collaboration among different stakeholders: clinicians, biostatisticians, regulators, commercial colleagues, and so on. For this reason, we invited experts from different fields of expertise to address the opportunities and challenges, and discuss recent advancements related to biomarkers and their translation into clinical development. The first four chapters discuss biomarker development from a clinical perspective ranging from introduction to biomarkers to recent advances in RNAi screens, epigenetics, and rare disease as targets for personalized medicine approaches. Chapters 5 through 10 are devoted to considerations from a statistical perspective, and the last chapter addresses the regulatory issues in biomarker utilization. A biomarker is a characteristic that can be objectively measured and evaluated as an indicator of a physiological as well as pathological process or response to a therapeutic intervention. Although there is nothing new about biomarkers such as glucose for diabetes and blood pressure for hypertension, the current focus on molecular biomarkers has taken the center stage in the development of molecular medicine. Molecular diagnostic technologies have enabled the discovery of molecular biomarkers and are assisting in the definition of the pathogenic mechanism of diseases. Biomarkers represent the basis of the development of diagnostic assays as well as the target for drug discovery. Biomarkers can help monitoring drugs effect in clinical trials as well as in clinical practice"-- Provided by publisher.

The first book on the clinical application of genetics in primary care medicine, Clinical Genomics focuses on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. Unlike traditional textbooks on medical genetics and dysmorphology, this is a clinical reference that covers many of the common diseases seen in everyday medical practice. Features: endorsed by the American College of Physicians; addresses the genetic basis of common chronic diseases, not just the classic diseases of dysmorphology.

Currently, the ethics infrastructure -- from medical and scientific training to the scrutiny of ethics committees -- focuses on trying to reform informed consent to do a job which it is simply not capable of doing. Consent, or choice, is not an effective ethical tool in public ethics and is particularly problematic in the governance of genetics. Heather Widdows suggests using alternative and additional ethical tools and argues that if individuals are to flourish it is necessary to recognise and respect communal and public goods as well as individual goods. To do this she suggests a two-step process -- the 'ethical toolbox'. First the harms and goods of the particular situation are assessed and then appropriate practices are put in place to protect goods and prevent harms. This debate speaks to core concerns of contemporary public ethics and suggests a means to identify and prioritise public and common goods. -- [Publisher-supplied data]

Aging is a degenerative process accompanied by tissue deterioration, decline in function and increased susceptibility to disease. It is now understood to be a genetically and environmentally regulated process, rather than simply the result of wear and tear. We developed a systematic approach to identify combinatorial cis-regulatory motifs that drive age-dependent gene expression across different tissues and organisms, and identified the transcription factor NF-[kappa]B as a candidate regulator of aging. Using multiple independent models, we show a role for NF-[kappa]B in regulating transcriptional programs of aging. First, we found that aged mice subjected to NF-[kappa]B blockade for two weeks exhibit reversion of the tissue characteristics and global gene expression programs to those of young mice. Next, we detected deregulated transcriptional activity of NF-[kappa]B in Sirt6-deficient mice, which exhibit premature aging-like symptoms. We show that Sirt6 interacts with the NF-[kappa]B RelA subunit and deacetylates histone H3 lysine 9 (H3K9) at NF-[kappa]B target gene promoters. Computational genomics analyses revealed increased activity of NF-[kappa]B-driven gene expression programs in multiple Sirt6-deficient tissues in vivo. Moreover, haploinsufficiency of RelA rescues the early lethality and degenerative syndrome of Sirt6-deficient mice, suggesting that hyperactive NF-[kappa]B-dependent transcription in the absence of Sirt6 promotes premature aging-like syndromes. Finally, we performed a genome-scale survey of RelA and Sirt6 location on chromatin in mouse embryonic fibroblasts (MEFs) via chromatin immunoprecipiation (ChIP)-on-chip to understand to what extent Sirt6 and RelA act coordinately to regulate gene expression. These results indicate that RelA and Sirt6 co-occupy the promoters of a large population of genes at sites less than 500kb apart and/or require RelA to enable binding of Sirt6. Expression analysis of these shared targets reveals direct regulation of 301 promoters, including genes such as Shc1 (encoding p66), Cdkn2a (encoding p16), Wnt2 and Jmjd3, which have been separately implicated in the aging process. We propose that hyperactive NF-[kappa]B signaling contributes to premature and normal aging.

Craniosynostosis - the premature fusion of the cranial sutures of an infant's skull - is a challenging and complex condition that can occur as part of a syndrome or in isolation. In the last two decades increased knowledge about the structure and function of the human genome has enabled the discovery of the molecular etiologies of most forms of syndromic craniosynostosis, which in turn has allowed for the analysis of normal and abnormal sutural biology from the atomic to the population-based level. In parallel with the increase in basic biological understanding, advances in clinical diagnosis and treatment have been achieved including improved prenatal imaging technology and craniofacial surgical techniques as well as condition-specific care in specialized hospitals and clinical units. This book represents a comprehensive overview on the subject of craniosynostosis. Its 19 excellent chapters were written by the foremost authorities in the field for a wide range of readers. They cover topics including a historical review, basic biological and molecular studies, the various common and uncommon syndromes, nonsyndromic craniosynostoses, genetic testing, prenatal ultrasonography, and recent methods of neurosurgical and maxillofacial treatment. Both investigators at the bench and clinicians at the operating table will appreciate this timely book which will be the definitive volume on craniosynostosis for many years to come.

Candidate gene based studies have identified a handful of aberrant CpG DNA methylation events in prostate cancer (Brooks et al. 1998; Yegnasubramanian et al. 2004). However, large scale DNA methylation profiles have not been examined for normal prostates or prostate tumors. Additionally, the mechanisms behind these DNA methylation alterations are unknown. In this thesis, I describe the results of my efforts to better understand these previously unexplored areas of biology. For the study presented in this thesis, I quantitatively profiled 95 primary prostate tumors and 86 healthy prostate tissue samples for their DNA methylation levels at 26,333 CpGs representing 14,104 gene promoters by using the Illumina HumanMethylation27 platform. When the profiles of the prostate tissue samples were compared, I observed a substantial number of tumor-specific DNA methylation alterations. A 2-class Significance Analysis of this dataset revealed 5,912 CpG sites with increased DNA methylation and 2,151 CpG sites with decreased DNA methylation in tumors (FDR < 0.8%). Prediction Analysis of this dataset identified 87 CpGs that are the most predictive diagnostic methylation biomarkers of prostate cancer. By integrating available clinical follow-up data, I also identified 69 prognostic DNA methylation alterations that correlate with biochemical recurrence of the tumor. To identify the mechanisms responsible for these genome-wide DNA methylation alterations, I measured the gene expression levels of several DNA methyltransferases (DNMTs) and their interacting proteins by TaqMan qPCR and observed increased expression of DNMT3A2, DNMT3B, and EZH2 in tumors. Subsequent transient transfection assays in cultured primary prostate cells revealed that DNMT3B1 and DNMT3B2 overexpression resulted in increased methylation of a substantial subset of CpG sites that also showed tumor-specific increased methylation.

Economic evaluation in health care: evidence-based medicine and evidence-based health economics -- Genomic medicine today: an introduction for health economists -- Economic evaluation and genomic medicine: what can they learn from each other? -- Introduction to the technical issues of economic evaluation -- Advanced methodological aspects in the economic evaluation -- Economic evaluation in the genomic era: some examples from the field -- Special requirements for economic evaluation and health technology assessment in genomic medicine -- A new methodological approach for cost-effectiveness analysis in genomic medicine -- Conclusions and future perspectives.

In the last 100,000 years, humans have been subjected to multiple different evolutionary pressures. Migration events, changing food sources, climate change, and technological advances are some of the ways environmental changes have applied pressure on human populations to undergo change. Recent advances in methods to measure differences in DNA sequences have led to new powerful techniques to measure the effect of evolution on different human populations. Also due to the availability of recent explosion of genomic data, our understanding of genetic basis of human disease has grown significantly. However, our knowledge regarding the effect that recent evolution has had on the genetic susceptibility to disease has grown to a much lesser extent. There is a lack of studies attempting to place the genetic basis of disease in the context of recent evolutionary changes. I describe multiple ways in which recent evolutionary pressures on the human genome can lead to insights to understanding how evolution has impacted complex disease. I show that GWAS (Genome-Wide Association Studies) are particularly well suited to measure the effect of recent evolution in complex disease. I provide methodology to detect positive selection in human disease and are able to ascertain whether recent evolution has disproportionately increased or decreased the risk of inherited disease. In addition, I introduce a method to approximate when and where genetic risk differentiation for specific disease has occurred, starting when humans began migration out of Africa. Environmental changes in the last 10,000 years known to have created novel, diverse, and pervasive pathogens. I provide methodology to find positive selection in communicable disease. I identify populations that have most likely been severely impacted by specific pathogens in recent human history. I develop and apply methods to identify specific genetic variants important to both communicable and inherited disease that have been affected by evolutionary pressures. I find that type 1 diabetes has recently undergone strong positive selection towards increasing genetic risk in European derived populations. In addition type 2 diabetes and pancreatic cancer is associated with migration trajectories and I find genetic risk differentiation exceeding what is expected by genetic drift in a total of 11 complex diseases. Finally, I find evidence of positive selection in many distinct populations within proteins interacting bacillus anthracis and yersinia pestis, which cause anthrax and the bubonic plague, respectively. I have shown how recent evolution can lead to an increased understanding of both inherited and infectious disease.

For decades, Emery & Rimoin's Principles and Practice of Medical Genetics has provided the ultimate source for practicing clinicians to learn how the study of genetics can be integrated into practice. With advances in high-throughput technologies propelling the closer integration of lab and clinical work, this sixth edition bridges the gap between high-level molecular genetics and individual application. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders.

Master the genetics you need to know with the updated 14th Edition, by Drs. Peter Turnpenny and Sian Ellard. Review the field's latest and most important topics with user-friendly coverage designed to help you better understand and apply the basic principles of genetics to clinical situations. Learning is easy with the aid of clear, full-color illustrative diagrams, a wealth of clinical photographs of genetic diseases, multiple-choice and case-based review questions, end-of-chapter summaries, and convenient.

I demonstrate how comparative sequence analysis facilitates genome-wide base-pair level interpretation of individual genetic variation, and address three questions of importance for human personal genomics: First, whether an individual's functional variation comes mostly from noncoding or coding polymorphisms; second, whether population-specific or globally present polymorphisms contribute more to functional variation in any given individual; third what is the functional impact of short insertions and deletions in an individual genome. These questions have not been definitively answered by analyses of existing variation data because of a focus on coding polymorphisms, ascertainment biases in favor of common variation, and a lack of base-pair level resolution for identifying functional variants. The data set used in this study consisted of 575 amplicons resequenced in 432 individuals at genomic sites enriched for evolutionary constraint, and variation from 5 published human genomes. Single-site measures of evolutionary constraint derived from mammalian multiple sequence alignments are strongly predictive of reductions in modern-day genetic diversity across a range of annotation categories and across the allele frequency spectrum. I show that putatively functional variation in an individual genome is dominated by polymorphisms that do not change protein sequence, and which originate from our shared ancestral population and commonly segregate in human populations. Furthermore, I demonstrate that selection against short human indels has been shaped by patterns of evolutionary constraint, belying their potential functional importance. These observations show that common, noncoding alleles contribute substantially to human phenotypes and that constraint-based analyses will be of tremendous value to identify phenotypically-relevant variants in individual genomes.

Advances in genomic technologies have allowed investigators to survey diverse molecular properties of cancer cells including DNA copy number alterations, RNA transcript abundance, and protein-DNA binding events. While each data type offers a unique snapshot of the tumor cell, an integrated analysis of two or more complementary data types can reveal much more than the sum of its parts. In this dissertation, I describe new integrative genomic methodologies and novel biologic insights gleaned from their application. In one such analysis of 52 breast cancer cell lines, we identify genomic alterations and gene-expression profiles that largely resemble those identified in primary breast tumors, therefore defining relevant tumor models of breast cancer subtypes. Additionally, we identify 80 high-level DNA amplifications and 13 multi-copy deletions, harboring known and novel cancer genes, thereby providing a rich resource for new breast cancer gene discovery and characterization. In an integrative analysis of colorectal cancers, we unveil a region of amplification highly specific to colorectal-derived tumors. We identify and characterize caudal type homeobox transcription factor 2 (CDX2), a master regulator of intestinal cell survival and differentiation, as the target gene of this amplification, and show a CDX2 amplification-specific dependency for tumor cell survival, proliferation, and anchorage-independent growth. Moreover, by integrating protein-DNA binding and gene expression data, we uncover a novel relationship between CDX2 and Wnt/[beta]-catenin signaling. Taken together, these data show that for a subset of colorectal-derived tumors, cell survival and proliferation are dependent on the abnormal amplification and overexpression of CDX2, thereby characterizing CDX2 as a novel lineage-survival oncogene in colorectal cancer. In the last portion of the dissertation, I reflect on how the rapidly growing knowledgebase of genetic associations with disease and drug response will help usher in a new era of personalized medicine. To help prepare for a future that includes an array of available genomic laboratory tests, I discuss the necessity to reform medical school curricula to educate students about the interpretation, limitations, and impact of genomic testing in clinical medicine. I describe the challenges and considerations relevant to the development of a novel educational curriculum that includes personal genomic testing.

This book reports the recent progress in gene and cell therapy through the liver and aims to facilitate a comprehensive understanding of the current aspects and future prospects from basic research to clinical therapies. Edited by pioneering researchers, this volume presents extensive information to principal investigators, researchers, postdocs, and clinicians for examining the wide varieties of pathological conditions both inside and outside the liver. Providing not only the basic and clinical aspects of therapy, this volume is special in that it focuses on the administrative and regulatory difficulties of actual clinical application and legal regulations in different parts of the globe. By indicating the advantages and limitations of the most promising gene and cell therapies targeting the liver, this book will inspire readers to develop a feasible treatment in the next generation.

There are several types of damage that can be found in the male gamete. Genetic damage in spermatozoa can originate during spermatogenesis, or it can originate during transit in both male and female genital tracts. Damage can also be due to aging, environmental or iatrogenic conditions, as well as to the protocols to cryopreserve and to select spermatozoa in assisted reproduction techniques. This book provides a comprehensive resource for all possible DNA damages in sperm, the relation to fertility and infertility, and possible transgenerational heritable effects.

"The population of the Indian subcontinent consists of a fine amalgamation of people from diverse tribal, cultural, religious and social backgrounds. Mortality and morbidity from a vast number of medical and surgical conditions is significant and well above compared to the developed countries. Although a large component of the human health problem is related to infection, malnutrition and other preventable causes, a significant proportion is linked to hereditary factors reflecting in the form of chromosomal, single gene and complex medical diseases. Unusual and unique Mendelian disorders are not uncommon and a number of common medical conditions, such as ischemic heart disease and diabetes mellitus are relatively more prevalent among those living in the developing countries of the Indian subcontinent and as well as among the migrant population groups in the western world. However, true burden of the inherited disorders among the Asian Indians is not known, and probably underestimated. -- This text includes a detailed and concise account of the social and cultural diversity, medical demography, genetic epidemiology, consanguinity and common genetic disorders affecting people from the Indian subcontinent. In addition, specific issues of genetic services in various regions are addressed. This volume also provides a glossary for the benefit of non-genetic professionals and is aimed at a wide audience including physicians, genetic professionals, public health consultants, medical demographers, medica/social anthropologists and health administrators." -- [Publisher-supplied data]

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CareNotes via MicroMedex: Patient education handouts customized by
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